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Items: 65

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr1:149825831-180236332
GRCh38:
Chr1:149854269-180267197
LOC132088675, LOC132088682, LOC132088705, LOC132088709, LOC132088744, LOC132088748, LOC132088749, LOC132090667, LOC132090668, LOC132090669, LOC729867, LORICRIN, LRRC52, LRRC52-AS1, LRRC71, LY9, LYSMD1, MAEL, MCL1, MEF2D, METTL13, METTL18, METTL25B, MEX3A, MGST3, MINDY1, MIR12116, MIR1255B2, MIR1295A, MIR1295B, MIR1843, MIR190B, MIR199A2, MIR214, MIR3119-1, MIR3119-2, MIR3120, MIR3658, MIR4257, MIR4258, MIR4259, MIR4424, MIR4654, MIR488, MIR5187, MIR554, MIR555, MIR556, MIR557, MIR5698, MIR6737, MIR6738, MIR6878, MIR765, MIR8083, MIR9-1, MIR9-1HG, MIR921, MIR92B, MLLT11, MNDA, MPC2, MPZ, MPZL1, MROH9, MRPL24, MRPL9, MRPS14, MRPS21, MSTO1, MTMR11, MTX1, MUC1, MYOC, MYOCOS, NAXE, NCSTN, NDUFS2, NECTIN4, NECTIN4-AS1, NES, NHLH1, NIT1, NME7, NOS1AP, NPHS2, NPR1, NR1I3, NTMT2, NTRK1, NUF2, NUP210L, OAZ3, OLFML2B, OR10J1, OR10J3, OR10J4, OR10J5, OR10K1, OR10K2, OR10R2, OR10T2, OR10X1, OR10Z1, OR6K2, OR6K3, OR6K6, OR6N1, OR6N2, OR6P1, OR6Y1, OTUD7B, PAPPA2, PAQR6, PBX1, PBX1-AS1, PBXIP1, PCP4L1, PEA15, PEAR1, PEX19, PFDN2, PGLYRP3, PGLYRP4, PI4KB, PIGC, PIGM, PIP5K1A, PKLR, PLEKHO1, PMF1, PMF1-BGLAP, PMVK, POGK, POGZ, POU2F1, POU2F1-DT, PPOX, PRCC, PRDX6, PRDX6-AS1, PRPF3, PRR9, PRRC2C, PRRX1, PRUNE1, PSMB4, PSMD4, PYDC5, PYGO2, PYHIN1, QSOX1, RAB13, RAB25, RABGAP1L, RABGAP1L-AS1, RABGAP1L-DT, RALGPS2, RALGPS2-AS1, RASAL2, RASAL2-AS1, RC3H1, RC3H1-DT, RCSD1, RFX5, RFX5-AS1, RGS4, RGS5, RGS5-AS1, RHBG, RIIAD1, RIT1, RORC, RPRD2, RPS27, RPTN, RUSC1, RUSC1-AS1, RXFP4, RXRG, S100A1, S100A10, S100A11, S100A12, S100A13, S100A14, S100A16, S100A2, S100A3, S100A4, S100A5, S100A6, S100A7, S100A7A, S100A8, S100A9, SCAMP3, SCARNA26A, SCARNA26B, SCARNA3, SCARNA4, SCNM1, SCYL3, SDHC, SEC16B, SELE, SELENBP1, SELL, SELP, SEMA4A, SEMA6C, SERPINC1, SETDB1, SF3B4, SFT2D2, SH2D1B, SH2D2A, SHC1, SHE, SLAMF1, SLAMF6, SLAMF7, SLAMF8, SLAMF9, SLC19A2, SLC25A44, SLC27A3, SLC39A1, SLC50A1, SLC9C2, SMCP, SMG5, SMIM42, SNAPIN, SNHG28, SNORA103, SNORA58B, SNORA80E, SNORD13C, SNORD44, SNORD47, SNORD74, SNORD75, SNORD76, SNORD77, SNORD78, SNORD79, SNORD80, SNORD81, SNX27, SOAT1, SPATA46, SPRR1A, SPRR1B, SPRR2A, SPRR2B, SPRR2D, SPRR2E, SPRR2F, SPRR2G, SPRR3, SPRR4, SPRR5, SPTA1, SSR2, STYXL2, SUCO, SV2A, SYT11, TADA1, TAGLN2, TARS2, TBX19, TCHH, TCHHL1, TDRD10, TDRD5, TDRKH, TDRKH-AS1, TEX35, TEX50, THBS3, THBS3-AS1, THEM4, THEM5, TIPRL, TMCO1, TMCO1-AS1, TMEM79, TMOD4, TNFAIP8L2, TNFAIP8L2-SCNM1, TNFSF18, TNFSF4, TNN, TNR, TOMM40L, TOR1AIP1, TOR1AIP2, TOR3A, TPM3, TRD-GTC2-1, TRD-GTC2-2, TRD-GTC2-3, TRD-GTC2-4, TRD-GTC2-5, TRE-CTC1-2, TRE-CTC1-3, TRE-CTC1-4, TRE-CTC1-5, TRE-TTC4-2, TRG-GCC1-1, TRG-GCC1-2, TRG-GCC1-3, TRG-GCC1-4, TRG-GCC2-1, TRG-GCC4-1, TRG-TCC2-2, TRG-TCC2-3, TRG-TCC2-4, TRG-TCC2-5, TRG-TCC2-6, TRG-TCC4-1, TRIM46, TRL-CAA6-1, TRL-CAG1-1, TRL-CAG1-2, TRL-CAG1-3, TRL-CAG1-4, TRL-CAG1-5, TRL-CAG1-6, TRN-GTT1-1, TRN-GTT2-2, TRP-AGG2-1, TRP-CGG1-1, TRR-TCT4-1, TRV-CAC1-1, TRX-CAT1-1, TSACC, TSTD1, TTC24, TUFT1, UAP1, UBAP2L, UBE2Q1, UBE2Q1-AS1, UBQLN4, UCK2, UFC1, UHMK1, USF1, USP21, VAMP4, VANGL2, VHLL, VPS45, VPS72, VSIG8, XCL1, XCL2, YY1AP1, ZBTB37, ZBTB7B, ZNF687, ZNF687-AS1, LOC129931498, LOC129931499, LOC129931500, LOC129931501, LOC129931502, LOC129931503, LOC129931504, LOC129931505, LOC129931506, LOC129931507, LOC129931508, LOC129931509, LOC129931510, LOC129931511, LOC129931512, LOC129931513, LOC129931514, LOC129931515, LOC129931516, LOC129931517, LOC129931518, LOC129931519, LOC129931520, LOC129931521, LOC129931522, LOC129931523, LOC129931524, LOC129931525, LOC129931526, LOC129931527, LOC129931528, LOC129931529, LOC129931530, LOC129931531, LOC129931532, LOC129931533, LOC129931534, LOC129931535, LOC129931536, LOC129931537, LOC129931538, LOC129931539, LOC129931540, LOC129931541, LOC129931542, LOC129931543, LOC129931544, LOC129931545, LOC129931546, LOC129931547, LOC129931548, LOC129931549, LOC129931550, LOC129931551, LOC129931552, LOC129931553, LOC129931554, LOC129931555, LOC129931556, LOC129931557, LOC129931558, LOC129931559, LOC129931560, LOC129931561, LOC129931562, LOC129931563, LOC129931564, LOC129931565, LOC129931566, LOC129931567, LOC129931568, LOC129931569, LOC129931570, LOC129931571, LOC129931572, LOC129931573, LOC129931574, LOC129931575, LOC129931576, LOC129931577, LOC129931578, LOC129931579, LOC129931580, LOC129931581, LOC129931582, LOC129931583, LOC129931584, LOC129931585, LOC129931586, LOC129931587, LOC129931588, LOC129931589, LOC129931590, LOC129931591, LOC129931592, LOC129931593, LOC129931594, LOC129931595, LOC129931596, LOC129931597, LOC129931598, LOC129931599, LOC129931600, LOC129931601, LOC129931602, LOC129931603, LOC129931604, LOC129931605, LOC129931606, LOC129931607, LOC129931608, LOC129931609, LOC129931610, LOC129931611, LOC129931612, LOC129931613, LOC129931614, LOC129931615, LOC129931616, LOC129931617, LOC129931618, LOC129931619, LOC129931620, LOC129931621, LOC129931622, LOC129931623, LOC129931624, LOC129931625, LOC129931626, LOC129931627, LOC129931628, LOC129931629, LOC129931630, LOC129931631, LOC129931632, LOC129931633, LOC129931634, LOC129931635, LOC129931636, LOC129931637, LOC129931638, LOC129931639, LOC129931640, LOC129931641, LOC129931642, LOC129931643, LOC129931644, LOC129931645, LOC129931646, LOC129931647, LOC129931648, LOC129931649, LOC129931650, LOC129931651, LOC129931652, LOC129931653, LOC129931654, LOC129931655, LOC129931656, LOC129931657, LOC129931658, LOC129931659, LOC129931660, LOC129931661, LOC129931662, LOC129931663, LOC129931664, LOC129931665, LOC129931666, LOC129931667, LOC129931668, LOC129931669, LOC129931670, LOC129931671, LOC129931672, LOC129931673, LOC129931674, LOC129931675, LOC129931676, LOC129931677, LOC129931678, LOC129931679, LOC129931680, LOC129931681, LOC129931682, LOC129931683, LOC129931684, LOC129931685, LOC129931686, LOC129931687, LOC129931688, LOC129931689, LOC129931690, LOC129931691, LOC129931692, LOC129931693, LOC129931694, LOC129931695, LOC129931696, LOC129931697, LOC129931698, LOC129931699, LOC129931700, LOC129931701, LOC129931702, LOC129931703, LOC129931704, LOC129931705, LOC129931706, LOC129931707, LOC129931708, LOC129931709, LOC129931710, LOC129931711, LOC129931712, LOC129931713, LOC129931714, LOC129931715, LOC129931716, LOC129931717, LOC129931718, LOC129931719, LOC129931720, LOC129931721, LOC129931722, LOC129931723, LOC129931724, LOC129931725, LOC129931726, LOC129931727, LOC129931728, LOC129931729, LOC129931730, LOC129931731, LOC129931732, LOC129931733, LOC129931734, LOC129931735, LOC129931736, LOC129931737, LOC129931738, LOC129931739, LOC129931740, LOC129931741, LOC129931742, LOC129931743, LOC129931744, LOC129931745, LOC129931746, LOC129931747, LOC129931748, LOC129931749, LOC129931750, LOC129931751, LOC129931752, LOC129931753, LOC129931754, LOC129931755, LOC129931756, LOC129931757, LOC129931758, LOC129931759, LOC129931760, LOC129931761, LOC129931762, LOC129931763, LOC129931764, LOC129931765, LOC129931766, LOC129931767, LOC129931768, LOC129931769, LOC129931770, LOC129931771, LOC129931772, LOC129931773, LOC129931774, LOC129931775, LOC129931776, LOC129931777, LOC129931778, LOC129931779, LOC129931780, LOC129931781, LOC129931782, LOC129931783, LOC129931784, LOC129931785, LOC129931786, LOC129931787, LOC129931788, LOC129931789, LOC129931790, LOC129931791, LOC129931792, LOC129931793, LOC129931794, LOC129931795, LOC129931796, LOC129931797, LOC129931798, LOC129931799, LOC129931800, LOC129931801, LOC129931802, LOC129931803, LOC129931804, LOC129931805, LOC129931806, LOC129931807, LOC129931808, LOC129931809, LOC129931810, LOC129931811, LOC129931812, LOC129931813, LOC129931814, LOC129931815, LOC129931816, LOC129931817, LOC129931818, LOC129931819, LOC129931820, LOC129931821, LOC129931822, LOC129931823, LOC129931824, LOC129931825, LOC129931826, LOC129931827, LOC129931828, LOC129931829, LOC129931830, LOC129931831, LOC129931832, LOC129931833, LOC129931834, LOC129931835, LOC129931836, LOC129931837, LOC129931838, LOC129931839, LOC129931840, LOC129931841, LOC129931842, LOC129931843, LOC129931844, LOC129931845, LOC129931846, LOC129931847, LOC129931848, LOC129931849, LOC129931850, LOC129931851, LOC129931852, LOC129931853, LOC129931854, LOC129931855, LOC129931856, LOC129931857, LOC129931858, LOC129931859, LOC129931860, LOC129931861, LOC129931862, LOC129931863, LOC129931864, LOC129931865, LOC129931866, LOC129931867, LOC129931868, LOC129931869, LOC129931870, LOC129931871, LOC129931872, LOC129931873, LOC129931874, LOC129931875, LOC129931876, LOC129931877, LOC129931878, LOC129931879, LOC129931880, LOC129931881, LOC129931882, LOC129931883, LOC129931884, LOC129931885, LOC129931886, LOC129931887, LOC129931888, LOC129931889, LOC129931890, LOC129931891, LOC129931892, LOC129931893, LOC129931894, LOC129931895, LOC129931896, LOC129931897, LOC129931898, LOC129931899, LOC129931900, LOC129931901, LOC129931902, LOC129931903, LOC129931904, LOC129931905, LOC129931906, LOC129931907, LOC129931908, LOC129931909, LOC129931910, LOC129931911, LOC129931912, LOC129931913, LOC129931914, LOC129931915, LOC129931916, LOC129931917, LOC129931918, LOC129931919, LOC129931920, LOC129931921, LOC129931922, LOC129931923, LOC129931924, LOC129931925, LOC129931926, LOC129931927, LOC129931928, LOC129931929, LOC129931930, LOC129931931, LOC129931932, LOC129931933, LOC129931934, LOC129931935, LOC129931936, LOC129931937, LOC129931938, LOC129931939, LOC129931940, LOC129931941, LOC129931942, LOC129931943, LOC129931944, LOC129931945, LOC129931946, LOC129931947, LOC129931948, LOC129931949, LOC129931950, LOC129931951, LOC129931952, LOC129931953, LOC129931954, LOC129931955, LOC129931956, LOC129931957, LOC129931958, LOC129931959, LOC129931960, LOC129931961, LOC129931962, LOC129931963, LOC129931964, LOC129931965, LOC129931966, LOC129931967, LOC129931968, LOC129931969, LOC129931970, LOC129931971, LOC129931972, LOC129931973, LOC129931974, LOC129931975, LOC129931976, LOC129931977, LOC129931978, LOC129931979, LOC129931980, LOC129931981, LOC129931982, LOC129931983, LOC129931984, LOC129931985, LOC129931986, LOC129931987, LOC129931988, LOC129931989, LOC129931990, LOC129931991, LOC129931992, LOC129931993, LOC129931994, LOC129931995, LOC129931996, LOC129931997, LOC129931998, LOC129931999, LOC129932000, LOC129932001, LOC129932002, LOC129932003, LOC129932004, LOC129932005, LOC129932006, LOC129932007, LOC129932008, LOC132088596, LOC132088597, LOC132088598, LOC132088599, LOC132088600, LOC132088655, LOC132088672, HRNR, HSD17B7, HSPA6, IFI16, IGSF8, IGSF9, IL6R, IL6R-AS1, ILDR2, ILF2, INSRR, INTS3, IQGAP3, ISG20L2, ITLN1, ITLN2, IVL, JTB, JTB-DT, KCNJ10, KCNJ9, KCNN3, KHDC4, KIAA0040, KIFAP3, KIRREL1, KIRREL1-IT1, KLHDC9, KLHL20, KPLCE, KPRP, KRTCAP2, LAMTOR2, LCE1A, LCE1B, LCE1C, LCE1D, LCE1E, LCE1F, LCE2A, LCE2B, LCE2C, LCE2D, LCE3A, LCE3B, LCE3C, LCE3D, LCE3E, LCE4A, LCE5A, LCE6A, LCE7A, LELP1, LENEP, LHX4, LINC00302, LINC00626, LINC00970, LINC01133, LINC01142, LINC01363, LINC01527, LINC01645, LINC01657, LINC01675, LINC01681, LINC01704, LINC01741, LINC02772, LINC02819, LINC02988, LINGO4, LMNA, LMX1A, LMX1A-AS1, LMX1A-AS2, LOC100131107, LOC100505918, LOC100506023, LOC101928009, LOC101928034, LOC101928120, LOC101928177, LOC101928372, LOC101928565, LOC101928596, LOC105371458, LOC105371468, LOC105371470, LOC105371622, LOC106627981, LOC106627982, LOC107880064, LOC107985203, LOC108251792, LOC108254671, LOC108281190, LOC110013312, LOC110120762, LOC110121004, LOC110121019, LOC110121021, LOC110121025, LOC110121037, LOC110121063, LOC110121105, LOC110121221, LOC110121262, LOC111464988, LOC111556138, LOC111828496, LOC112543491, LOC112577492, LOC112577493, LOC112577494, LOC112577495, LOC112577503, LOC112577506, LOC112577507, LOC112577508, LOC112577509, LOC112577510, LOC112577511, LOC112577512, LOC112577513, LOC112577514, LOC112577515, LOC112577517, LOC113939980, LOC115801442, LOC115801443, LOC115801444, LOC115801445, LOC115801446, LOC115801447, LOC115801448, LOC115801449, LOC115801450, LOC115801451, LOC115801452, LOC115801453, LOC115801454, LOC115801455, LOC115801456, LOC120766158, LOC120893159, LOC120893160, LOC120893161, LOC120893162, LOC120893163, LOC120893164, LOC120893165, LOC120893166, LOC120893168, LOC121725054, LOC121725055, LOC121725056, LOC121725058, LOC121725059, LOC121725060, LOC121725061, LOC121725062, LOC121725063, LOC121725064, LOC122128421, LOC122128422, LOC122128423, LOC122128424, LOC122128425, LOC122128426, LOC122128427, LOC122128428, LOC122128429, LOC122128430, LOC122128431, LOC122128432, LOC122128433, LOC122128434, LOC122128435, LOC122128436, LOC122128437, LOC122128438, LOC122128439, LOC122128440, LOC122128441, LOC122128442, LOC122128443, LOC122128444, LOC122128445, LOC122128446, LOC122128447, LOC122128448, LOC122128449, LOC122128450, LOC122128451, LOC122128452, LOC122128453, LOC122128454, LOC122128455, LOC122128456, LOC122128457, LOC122128458, LOC122128459, LOC122128460, LOC122128461, LOC122128462, LOC122128463, LOC122128464, LOC122128465, LOC122128466, LOC122128467, LOC122128468, LOC122128469, LOC122128470, LOC122128471, LOC122128472, LOC122149292, LOC122149293, LOC122149294, LOC122149295, LOC122149296, LOC122149297, LOC122149307, LOC122149308, LOC122149309, LOC122149310, LOC122149311, LOC122149312, LOC122149313, LOC122149314, LOC122149315, LOC122149316, LOC125312414, LOC126805855, LOC126805856, LOC126805857, LOC126805858, LOC126805859, LOC126805860, LOC126805861, LOC126805862, LOC126805863, LOC126805864, LOC126805865, LOC126805866, LOC126805867, LOC126805868, LOC126805869, LOC126805870, LOC126805871, LOC126805872, LOC126805873, LOC126805874, LOC126805875, LOC126805876, LOC126805877, LOC126805878, LOC126805879, LOC126805880, LOC126805881, LOC126805882, LOC126805883, LOC126805884, LOC126805885, LOC126805886, LOC126805887, LOC126805888, LOC126805889, LOC126805890, LOC126805891, LOC126805892, LOC126805893, LOC126805894, LOC126805895, LOC126805896, LOC126805897, LOC126805898, LOC126805899, LOC126805900, LOC126805901, LOC126805902, LOC126805903, LOC126805904, LOC126805905, LOC126805906, LOC126805907, LOC126805908, LOC126805909, LOC126805910, LOC126805911, LOC126805912, LOC126805913, LOC126805914, LOC126805915, LOC126805916, LOC126805917, LOC126805918, LOC126805919, LOC126805920, LOC126805921, LOC126805922, LOC126805923, LOC126805924, LOC126805925, LOC126805926, LOC126805927, LOC126805928, LOC126805929, LOC126805930, LOC126805931, LOC126805932, LOC126805933, LOC126805934, LOC126805935, LOC126805936, LOC126805937, LOC126805938, LOC127814295, LOC128071543, LOC128772199, LOC128772200, LOC128772201, LOC128772202, LOC128772203, LOC128772204, LOC128772205, LOC128772206, LOC128772207, LOC128772208, LOC128772209, LOC128772210, LOC128772211, LOC128772212, LOC128772213, LOC128772214, LOC128772215, LOC128772216, LOC128772217, LOC128772218, LOC128772219, LOC128772220, LOC128772221, LOC128772222, LOC128772223, LOC128772224, LOC128772225, LOC128772226, LOC128772227, LOC128772228, LOC128772229, LOC128772230, LOC128772231, LOC128779115, LOC128781584, LOC128822934, LOC129388606, LOC129388607, LOC129388608, LOC129388609, LOC129388610, LOC129388611, LOC129388612, LOC129388613, LOC129388614, LOC129388615, LOC129388616, LOC129388617, LOC129388618, LOC129388619, LOC129388620, LOC129388621, LOC129388622, LOC129388623, LOC129388624, LOC129388625, LOC129388626, LOC129388627, LOC129388628, LOC129388629, LOC129388630, LOC129388631, LOC129388632, LOC129388633, LOC129388634, LOC129388635, LOC129388636, LOC129388637, LOC129388638, LOC129388639, LOC129388640, LOC129388641, LOC129388642, LOC129388643, LOC129388644, LOC129388645, LOC129388646, LOC129388647, LOC129931373, LOC129931374, LOC129931375, LOC129931376, LOC129931377, LOC129931378, LOC129931379, LOC129931380, LOC129931381, LOC129931382, LOC129931383, LOC129931384, LOC129931385, LOC129931386, LOC129931387, LOC129931388, LOC129931389, LOC129931390, LOC129931391, LOC129931392, LOC129931393, LOC129931394, LOC129931395, LOC129931396, LOC129931397, LOC129931398, LOC129931399, LOC129931400, LOC129931401, LOC129931402, LOC129931403, LOC129931404, LOC129931405, LOC129931406, LOC129931407, LOC129931408, LOC129931409, LOC129931410, LOC129931411, LOC129931412, LOC129931413, LOC129931414, LOC129931415, LOC129931416, LOC129931417, LOC129931418, LOC129931419, LOC129931420, LOC129931421, LOC129931422, LOC129931423, LOC129931424, LOC129931425, LOC129931426, LOC129931427, LOC129931428, LOC129931429, LOC129931430, LOC129931431, LOC129931432, LOC129931433, LOC129931434, LOC129931435, LOC129931436, LOC129931437, LOC129931438, LOC129931439, LOC129931440, LOC129931441, LOC129931442, LOC129931443, LOC129931444, LOC129931445, LOC129931446, LOC129931447, LOC129931448, LOC129931449, LOC129931450, LOC129931451, LOC129931452, LOC129931453, LOC129931454, LOC129931455, LOC129931456, LOC129931457, LOC129931458, LOC129931459, LOC129931460, LOC129931461, LOC129931462, LOC129931463, LOC129931464, LOC129931465, LOC129931466, LOC129931467, LOC129931468, LOC129931469, LOC129931470, LOC129931471, LOC129931472, LOC129931473, LOC129931474, LOC129931475, LOC129931476, LOC129931477, LOC129931478, LOC129931479, LOC129931480, LOC129931481, LOC129931482, LOC129931483, LOC129931484, LOC129931485, LOC129931486, LOC129931487, LOC129931488, LOC129931489, LOC129931490, LOC129931491, LOC129931492, LOC129931493, LOC129931494, LOC129931495, LOC129931496, LOC129931497, ABL2, ACKR1, ADAM15, ADAM15-EFNA4, ADAMTS4, ADAMTSL4, ADAMTSL4-AS1, ADAMTSL4-AS2, ADAR, ADCY10, AIM2, ALDH9A1, ANGPTL1, ANKRD45, ANP32E, ANXA9, APCS, APH1A, APOA2, AQP10, ARHGAP30, ARHGEF11, ARHGEF2, ARHGEF2-AS2, ARNT, ASH1L, ASH1L-AS1, ASTN1, ATF6, ATF6-DT, ATP1A2, ATP1A4, ATP1B1, ATP8B2, AXDND1, B4GALT3, BCAN, BCAN-AS1, BCAN-AS2, BGLAP, BLZF1, BNIPL, BOLA1, BRINP2, C1orf105, C1orf220, C1orf226, C1orf43, C1orf54, C1orf56, C2CD4D, C2CD4D-AS1, CA14, CACYBP, CADM3, CADM3-AS1, CASQ1, CCDC181, CCDC190, CCT3, CD1A, CD1B, CD1C, CD1D, CD1E, CD244, CD247, CD48, CD5L, CD84, CDC42SE1, CELF3, CENPL, CEP350, CERS2, CFAP126, CFAP141, CFAP45, CGN, CHRNB2, CHTOP, CIART, CKS1B, CLEC20A, CLK2, COP1, COP1-DT, COPA, CRABP2, CRCT1, CREB3L4, CREG1, CRNN, CRP, CRTC2, CRYZL2P-SEC16B, CTSK, CTSS, CTXND2, DAP3, DARS2, DCAF6, DCAF8, DCAF8-DT, DCST1, DCST1-AS1, DCST2, DDR2, DEDD, DENND4B, DNM3, DNM3-IT1, DNM3OS, DPM3, DPT, DUSP12, DUSP23, ECM1, EFNA1, EFNA3, EFNA4, EFNA4-EFNA3, ENSA, ENTREP3, ETV3, ETV3L, F11R, F5, FALEC, FAM163A, FAM20B, FAM78B, FAM78B-AS1, FASLG, FCER1A, FCER1G, FCGR2A, FCGR2B, FCGR2C, FCGR3A, FCGR3B, FCRL1, FCRL2, FCRL3, FCRL4, FCRL5, FCRL6, FCRLA, FCRLB, FDPS, FIRRM, FLAD1, FLG, FLG-AS1, FLG2, FMO1, FMO2, FMO3, FMO4, GABPB2, GAS5, GAS5-AS1, GATAD2B, GBA1, GLMP, GOLPH3L, GON4L, GORAB, GORAB-AS1, GPA33, GPATCH4, GPR161, GPR52, H2AC20, H2AC21, H2BC21, H4C15, HAPLN2, HAX1, HCN3, HDGF, HORMAD1
See casesPathogenic
(Jul 16, 2013)
no assertion criteria provided
2.
GRCh37:
Chr1:157717036-175990383
GRCh38:
Chr1:157747246-176021247
ADAMTS4, ADCY10, AIM2, ALDH9A1, ANKRD45, APCS, APOA2, ARHGAP30, ATF6, ATF6-DT, ATP1A2, ATP1A4, ATP1B1, B4GALT3, BLZF1, C1orf105, C1orf226, CACYBP, CADM3, CADM3-AS1, CASQ1, CCDC181, CCDC190, CD1A, CD1B, CD1C, CD1D, CD1E, CD244, CD247, CD48, CD5L, CD84, CENPL, CFAP126, CFAP45, COP1, COPA, CREG1, CRP, DARS2, DCAF6, DCAF8, DCAF8-DT, DDR2, DEDD, DNM3, DNM3-IT1, DNM3OS, DPT, DUSP12, DUSP23, F11R, F5, FAM78B, FAM78B-AS1, FASLG, FCER1A, FCER1G, FCGR2A, FCGR2B, FCGR2C, FCGR3A, FCGR3B, FCRL1, FCRL2, FCRL6, FCRLA, FCRLB, FIRRM, FMO1, FMO2, FMO3, FMO4, GAS5, GAS5-AS1, GORAB, GORAB-AS1, GPA33, GPR161, GPR52, HSD17B7, HSPA6, IFI16, IGSF8, IGSF9, ILDR2, ITLN1, ITLN2, KCNJ10, KCNJ9, KIAA0040, KIFAP3, KIRREL1, KIRREL1-IT1, KLHDC9, KLHL20, LINC00626, LINC00970, LINC01133, LINC01142, LINC01363, LINC01657, LINC01675, LINC01681, LINC01704, LINC02819, LMX1A, LMX1A-AS1, LMX1A-AS2, LOC100505918, LOC100506023, LOC101928372, LOC101928565, LOC101928596, LOC105371458, LOC105371468, LOC105371470, LOC105371622, LOC108251792, LOC108281190, LOC110120762, LOC110121004, LOC110121019, LOC110121021, LOC110121025, LOC110121037, LOC110121063, LOC110121105, LOC111464988, LOC112543491, LOC112577503, LOC112577506, LOC112577507, LOC112577508, LOC112577509, LOC112577510, LOC112577511, LOC112577512, LOC112577513, LOC112577514, LOC112577515, LOC113939980, LOC115801450, LOC115801451, LOC115801452, LOC115801453, LOC115801454, LOC115801455, LOC120893164, LOC120893165, LOC120893166, LOC120893168, LOC121725060, LOC121725061, LOC121725062, LOC121725063, LOC121725064, LOC122128451, LOC122128452, LOC122128453, LOC122128454, LOC122128455, LOC122128456, LOC122128457, LOC122128458, LOC122128459, LOC122128460, LOC122128461, LOC122128462, LOC122128463, LOC122128464, LOC122128465, LOC122128466, LOC122128467, LOC122128468, LOC122128469, LOC122128470, LOC122128471, LOC122128472, LOC122149292, LOC122149293, LOC122149294, LOC122149295, LOC122149296, LOC122149297, LOC122149307, LOC122149308, LOC122149309, LOC122149310, LOC122149311, LOC122149312, LOC125312414, LOC126805883, LOC126805884, LOC126805885, LOC126805886, LOC126805887, LOC126805888, LOC126805889, LOC126805890, LOC126805891, LOC126805892, LOC126805893, LOC126805894, LOC126805895, LOC126805896, LOC126805897, LOC126805898, LOC126805899, LOC126805900, LOC126805901, LOC126805902, LOC126805903, LOC126805904, LOC126805905, LOC126805906, LOC126805907, LOC126805908, LOC126805909, LOC126805910, LOC126805911, LOC126805912, LOC126805913, LOC126805914, LOC126805915, LOC126805916, LOC126805917, LOC126805918, LOC126805919, LOC126805920, LOC126805921, LOC126805922, LOC126805923, LOC126805924, LOC126805925, LOC126805926, LOC126805927, LOC126805928, LOC127814295, LOC129388614, LOC129388615, LOC129388616, LOC129388617, LOC129388618, LOC129388619, LOC129388620, LOC129388621, LOC129388622, LOC129388623, LOC129388624, LOC129388625, LOC129388626, LOC129388627, LOC129388628, LOC129388629, LOC129388630, LOC129388631, LOC129388632, LOC129388633, LOC129388634, LOC129388635, LOC129388636, LOC129388637, LOC129388638, LOC129388639, LOC129388640, LOC129388641, LOC129931661, LOC129931662, LOC129931663, LOC129931664, LOC129931665, LOC129931666, LOC129931667, LOC129931668, LOC129931669, LOC129931670, LOC129931671, LOC129931672, LOC129931673, LOC129931674, LOC129931675, LOC129931676, LOC129931677, LOC129931678, LOC129931679, LOC129931680, LOC129931681, LOC129931682, LOC129931683, LOC129931684, LOC129931685, LOC129931686, LOC129931687, LOC129931688, LOC129931689, LOC129931690, LOC129931691, LOC129931692, LOC129931693, LOC129931694, LOC129931695, LOC129931696, LOC129931697, LOC129931698, LOC129931699, LOC129931700, LOC129931701, LOC129931702, LOC129931703, LOC129931704, LOC129931705, LOC129931706, LOC129931707, LOC129931708, LOC129931709, LOC129931710, LOC129931711, LOC129931712, LOC129931713, LOC129931714, LOC129931715, LOC129931716, LOC129931717, LOC129931718, LOC129931719, LOC129931720, LOC129931721, LOC129931722, LOC129931723, LOC129931724, LOC129931725, LOC129931726, LOC129931727, LOC129931728, LOC129931729, LOC129931730, LOC129931731, LOC129931732, LOC129931733, LOC129931734, LOC129931735, LOC129931736, LOC129931737, LOC129931738, LOC129931739, LOC129931740, LOC129931741, LOC129931742, LOC129931743, LOC129931744, LOC129931745, LOC129931746, LOC129931747, LOC129931748, LOC129931749, LOC129931750, LOC129931751, LOC129931752, LOC129931753, LOC129931754, LOC129931755, LOC129931756, LOC129931757, LOC129931758, LOC129931759, LOC129931760, LOC129931761, LOC129931762, LOC129931763, LOC129931764, LOC129931765, LOC129931766, LOC129931767, LOC129931768, LOC129931769, LOC129931770, LOC129931771, LOC129931772, LOC129931773, LOC129931774, LOC129931775, LOC129931776, LOC129931777, LOC129931778, LOC129931779, LOC129931780, LOC129931781, LOC129931782, LOC129931783, LOC129931784, LOC129931785, LOC129931786, LOC129931787, LOC129931788, LOC129931789, LOC129931790, LOC129931791, LOC129931792, LOC129931793, LOC129931794, LOC129931795, LOC129931796, LOC129931797, LOC129931798, LOC129931799, LOC129931800, LOC129931801, LOC129931802, LOC129931803, LOC129931804, LOC129931805, LOC129931806, LOC129931807, LOC129931808, LOC129931809, LOC129931810, LOC129931811, LOC129931812, LOC129931813, LOC129931814, LOC129931815, LOC129931816, LOC129931817, LOC129931818, LOC129931819, LOC129931820, LOC129931821, LOC129931822, LOC129931823, LOC129931824, LOC129931825, LOC129931826, LOC129931827, LOC129931828, LOC129931829, LOC129931830, LOC129931831, LOC129931832, LOC129931833, LOC129931834, LOC129931835, LOC129931836, LOC129931837, LOC129931838, LOC129931839, LOC129931840, LOC129931841, LOC129931842, LOC129931843, LOC129931844, LOC129931845, LOC129931846, LOC129931847, LOC129931848, LOC129931849, LOC129931850, LOC129931851, LOC129931852, LOC129931853, LOC129931854, LOC129931855, LOC129931856, LOC129931857, LOC129931858, LOC129931859, LOC129931860, LOC129931861, LOC129931862, LOC129931863, LOC129931864, LOC129931865, LOC129931866, LOC129931867, LOC129931868, LOC129931869, LOC129931870, LOC129931871, LOC129931872, LOC129931873, LOC129931874, LOC129931875, LOC129931876, LOC129931877, LOC129931878, LOC129931879, LOC129931880, LOC129931881, LOC129931882, LOC129931883, LOC129931884, LOC129931885, LOC129931886, LOC129931887, LOC129931888, LOC129931889, LOC129931890, LOC129931891, LOC129931892, LOC129931893, LOC129931894, LOC129931895, LOC129931896, LOC129931897, LOC129931898, LOC129931899, LOC129931900, LOC129931901, LOC129931902, LOC129931903, LOC129931904, LOC129931905, LOC129931906, LOC129931907, LOC129931908, LOC129931909, LOC129931910, LOC129931911, LOC129931912, LOC129931913, LOC129931914, LOC129931915, LOC129931916, LOC129931917, LOC129931918, LOC129931919, LOC129931920, LOC129931921, ACKR1, LOC129931922, LOC129931923, LOC129931924, LOC129931925, LOC129931926, LOC129931927, LOC129931928, LOC129931929, LOC129931930, LOC129931931, LOC129931932, LOC129931933, LOC129931934, LOC129931935, LOC129931936, LOC129931937, LOC129931938, LOC129931939, LOC129931940, LOC129931941, LOC129931942, LOC129931943, LOC129931944, LOC129931945, LOC129931946, LOC129931947, LOC129931948, LOC129931949, LOC129931950, LOC129931951, LOC129931952, LOC129931953, LOC129931954, LOC129931955, LOC129931956, LOC129931957, LOC129931958, LOC129931959, LOC129931960, LOC129931961, LOC129931962, LOC129931963, LOC129931964, LOC129931965, LOC129931966, LOC129931967, LOC129931968, LOC129931969, LOC129931970, LOC129931971, LOC132088596, LOC132088597, LOC132088598, LOC132088655, LOC132088672, LOC132088675, LOC132088682, LOC132088705, LOC132088709, LOC132088744, LOC132088748, LOC132088749, LOC132090667, LOC132090668, LOC132090669, LOC729867, LRRC52, LRRC52-AS1, LY9, MAEL, METTL13, METTL18, MGST3, MIR1255B2, MIR1295A, MIR1295B, MIR1843, MIR199A2, MIR214, MIR3119-1, MIR3119-2, MIR3120, MIR3658, MIR4259, MIR4654, MIR5187, MIR556, MIR557, MIR921, MNDA, MPC2, MPZ, MPZL1, MROH9, MRPS14, MYOC, MYOCOS, NCSTN, NDUFS2, NECTIN4, NECTIN4-AS1, NHLH1, NIT1, NME7, NOS1AP, NR1I3, NTMT2, NUF2, OLFML2B, OR10J1, OR10J3, OR10J4, OR10J5, OR10K1, OR10K2, OR10R2, OR10T2, OR10X1, OR10Z1, OR6K2, OR6K3, OR6K6, OR6N1, OR6N2, OR6P1, OR6Y1, PBX1, PBX1-AS1, PCP4L1, PEA15, PEX19, PFDN2, PIGC, PIGM, POGK, POU2F1, POU2F1-DT, PPOX, PRDX6, PRDX6-AS1, PRRC2C, PRRX1, PYDC5, PYHIN1, RABGAP1L, RABGAP1L-AS1, RABGAP1L-DT, RC3H1, RC3H1-DT, RCSD1, RGS4, RGS5, RGS5-AS1, RXRG, SCARNA3, SCYL3, SDHC, SELE, SELL, SELP, SERPINC1, SFT2D2, SH2D1B, SLAMF1, SLAMF6, SLAMF7, SLAMF8, SLAMF9, SLC19A2, SLC9C2, SMIM42, SNHG28, SNORA103, SNORD44, SNORD47, SNORD74, SNORD75, SNORD76, SNORD77, SNORD78, SNORD79, SNORD80, SNORD81, SPATA46, SPTA1, STYXL2, SUCO, TADA1, TAGLN2, TBX19, TEX50, TIPRL, TMCO1, TMCO1-AS1, TNFSF18, TNFSF4, TNN, TNR, TOMM40L, TRD-GTC2-1, TRD-GTC2-2, TRD-GTC2-3, TRD-GTC2-4, TRD-GTC2-5, TRE-CTC1-2, TRE-CTC1-3, TRE-CTC1-4, TRE-CTC1-5, TRE-TTC4-2, TRG-GCC1-1, TRG-GCC1-2, TRG-GCC1-3, TRG-GCC1-4, TRG-GCC2-1, TRG-GCC4-1, TRG-TCC2-2, TRG-TCC2-3, TRG-TCC2-4, TRG-TCC2-5, TRG-TCC2-6, TRG-TCC4-1, TRL-CAA6-1, TRL-CAG1-1, TRL-CAG1-2, TRL-CAG1-3, TRL-CAG1-4, TRL-CAG1-5, TRL-CAG1-6, TRN-GTT1-1, TRN-GTT2-2, TRP-AGG2-1, TRP-CGG1-1, TRR-TCT4-1, TRV-CAC1-1, TSTD1, UAP1, UCK2, UFC1, UHMK1, USF1, USP21, VAMP4, VANGL2, VSIG8, XCL1, XCL2, ZBTB37
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
3.
GRCh37:
Chr1:161710697-173934292
GRCh38:
Chr1:161740907-173965154
ADCY10, ALDH9A1, ANKRD45, ATF6, ATF6-DT, ATP1B1, BLZF1, C1orf105, C1orf226, CCDC181, CCDC190, CD247, CENPL, CREG1, DARS2, DCAF6, DDR2, DNM3, DNM3-IT1, DNM3OS, DPT, DUSP12, F5, FAM78B, FAM78B-AS1, FASLG, FIRRM, FMO1, FMO2, FMO3, FMO4, GAS5, GAS5-AS1, GORAB, GORAB-AS1, GPA33, GPR161, HSD17B7, ILDR2, KIFAP3, KLHL20, LINC00626, LINC00970, LINC01142, LINC01363, LINC01675, LINC01681, LMX1A, LMX1A-AS1, LMX1A-AS2, LOC100505918, LOC100506023, LOC101928565, LOC101928596, LOC108251792, LOC108281190, LOC110120762, LOC110121004, LOC110121019, LOC110121021, LOC110121025, LOC110121037, LOC110121063, LOC110121105, LOC111464988, LOC112577508, LOC112577509, LOC112577510, LOC112577511, LOC112577512, LOC112577513, LOC112577514, LOC113939980, LOC115801454, LOC115801455, LOC120893165, LOC120893166, LOC120893168, LOC121725062, LOC121725063, LOC121725064, LOC122128460, LOC122128461, LOC122128462, LOC122128463, LOC122128464, LOC122128465, LOC122128466, LOC122128467, LOC122128468, LOC122128469, LOC122128470, LOC122128471, LOC122128472, LOC122149292, LOC122149293, LOC122149294, LOC122149295, LOC122149296, LOC122149297, LOC122149307, LOC122149308, LOC125312414, LOC126805895, LOC126805896, LOC126805897, LOC126805898, LOC126805899, LOC126805900, LOC126805901, LOC126805902, LOC126805903, LOC126805904, LOC126805905, LOC126805906, LOC126805907, LOC126805908, LOC126805909, LOC126805910, LOC126805911, LOC126805912, LOC126805913, LOC126805914, LOC126805915, LOC126805916, LOC126805917, LOC126805918, LOC126805919, LOC126805920, LOC126805921, LOC126805922, LOC126805923, LOC126805924, LOC127814295, LOC129388616, LOC129388617, LOC129388618, LOC129388619, LOC129388620, LOC129388621, LOC129388622, LOC129388623, LOC129388624, LOC129388625, LOC129388626, LOC129388627, LOC129388628, LOC129388629, LOC129388630, LOC129388631, LOC129388632, LOC129388633, LOC129388634, LOC129388635, LOC129931787, LOC129931788, LOC129931789, LOC129931790, LOC129931791, LOC129931792, LOC129931793, LOC129931794, LOC129931795, LOC129931796, LOC129931797, LOC129931798, LOC129931799, LOC129931800, LOC129931801, LOC129931802, LOC129931803, LOC129931804, LOC129931805, LOC129931806, LOC129931807, LOC129931808, LOC129931809, LOC129931810, LOC129931811, LOC129931812, LOC129931813, LOC129931814, LOC129931815, LOC129931816, LOC129931817, LOC129931818, LOC129931819, LOC129931820, LOC129931821, LOC129931822, LOC129931823, LOC129931824, LOC129931825, LOC129931826, LOC129931827, LOC129931828, LOC129931829, LOC129931830, LOC129931831, LOC129931832, LOC129931833, LOC129931834, LOC129931835, LOC129931836, LOC129931837, LOC129931838, LOC129931839, LOC129931840, LOC129931841, LOC129931842, LOC129931843, LOC129931844, LOC129931845, LOC129931846, LOC129931847, LOC129931848, LOC129931849, LOC129931850, LOC129931851, LOC129931852, LOC129931853, LOC129931854, LOC129931855, LOC129931856, LOC129931857, LOC129931858, LOC129931859, LOC129931860, LOC129931861, LOC129931862, LOC129931863, LOC129931864, LOC129931865, LOC129931866, LOC129931867, LOC129931868, LOC129931869, LOC129931870, LOC129931871, LOC129931872, LOC129931873, LOC129931874, LOC129931875, LOC129931876, LOC129931877, LOC129931878, LOC129931879, LOC129931880, LOC129931881, LOC129931882, LOC129931883, LOC129931884, LOC129931885, LOC129931886, LOC129931887, LOC129931888, LOC129931889, LOC129931890, LOC129931891, LOC129931892, LOC129931893, LOC129931894, LOC129931895, LOC129931896, LOC129931897, LOC129931898, LOC129931899, LOC129931900, LOC129931901, LOC129931902, LOC129931903, LOC129931904, LOC129931905, LOC129931906, LOC129931907, LOC129931908, LOC129931909, LOC129931910, LOC129931911, LOC129931912, LOC129931913, LOC129931914, LOC129931915, LOC129931916, LOC129931917, LOC129931918, LOC129931919, LOC129931920, LOC129931921, LOC129931922, LOC129931923, LOC129931924, LOC129931925, LOC129931926, LOC129931927, LOC129931928, LOC129931929, LOC129931930, LOC129931931, LOC129931932, LOC129931933, LOC129931934, LOC129931935, LOC129931936, LOC129931937, LOC129931938, LOC129931939, LOC129931940, LOC129931941, LOC132088596, LOC132088597, LOC132088598, LOC132088655, LOC132088672, LOC132088675, LOC132088682, LOC132088705, LOC132088709, LOC132088744, LOC132088748, LOC132088749, LOC132090668, LOC132090669, LRRC52, LRRC52-AS1, MAEL, METTL13, METTL18, MGST3, MIR1255B2, MIR1295A, MIR1295B, MIR199A2, MIR214, MIR3119-1, MIR3119-2, MIR3120, MIR3658, MIR4654, MIR556, MIR557, MIR921, MPC2, MPZL1, MROH9, MYOC, MYOCOS, NME7, NOS1AP, NTMT2, NUF2, OLFML2B, PBX1, PBX1-AS1, PIGC, POGK, POU2F1, POU2F1-DT, PRDX6, PRDX6-AS1, PRRC2C, PRRX1, RC3H1, RCSD1, RGS4, RGS5, RGS5-AS1, RXRG, SCYL3, SELE, SELL, SELP, SERPINC1, SFT2D2, SH2D1B, SLC19A2, SLC9C2, SNORA103, SNORD44, SNORD47, SNORD74, SNORD75, SNORD76, SNORD77, SNORD78, SNORD79, SNORD80, SNORD81, SPATA46, STYXL2, SUCO, TADA1, TBX19, TEX50, TIPRL, TMCO1, TMCO1-AS1, TNFSF18, TNFSF4, TRP-AGG2-1, TRP-CGG1-1, UAP1, UCK2, UHMK1, VAMP4, XCL1, XCL2, ZBTB37
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
4.
GRCh37:
Chr1:163352313-175846158
GRCh38:
Chr1:163382523-175877022
ADCY10, ALDH9A1, ANKRD45, ATP1B1, BLZF1, C1orf105, CACYBP, CCDC181, CD247, CENPL, CREG1, DARS2, DCAF6, DNM3, DNM3-IT1, DNM3OS, DPT, F5, FAM78B, FAM78B-AS1, FASLG, FIRRM, FMO1, FMO2, FMO3, FMO4, GAS5, GAS5-AS1, GORAB, GORAB-AS1, GPA33, GPR161, GPR52, ILDR2, KIAA0040, KIFAP3, KLHL20, LINC00626, LINC00970, LINC01142, LINC01363, LINC01675, LINC01681, LMX1A, LMX1A-AS1, LMX1A-AS2, LOC100505918, LOC100506023, LOC101928565, LOC101928596, LOC105371622, LOC108251792, LOC110120762, LOC110121004, LOC110121019, LOC110121021, LOC110121025, LOC110121037, LOC110121063, LOC110121105, LOC111464988, LOC112577509, LOC112577510, LOC112577511, LOC112577512, LOC112577513, LOC112577514, LOC112577515, LOC113939980, LOC115801454, LOC115801455, LOC120893165, LOC120893166, LOC120893168, LOC121725063, LOC121725064, LOC122128464, LOC122128465, LOC122128466, LOC122128467, LOC122128468, LOC122128469, LOC122128470, LOC122128471, LOC122128472, LOC122149292, LOC122149293, LOC122149294, LOC122149295, LOC122149296, LOC122149297, LOC122149307, LOC122149308, LOC122149309, LOC122149310, LOC122149311, LOC122149312, LOC125312414, LOC126805898, LOC126805899, LOC126805900, LOC126805901, LOC126805902, LOC126805903, LOC126805904, LOC126805905, LOC126805906, LOC126805907, LOC126805908, LOC126805909, LOC126805910, LOC126805911, LOC126805912, LOC126805913, LOC126805914, LOC126805915, LOC126805916, LOC126805917, LOC126805918, LOC126805919, LOC126805920, LOC126805921, LOC126805922, LOC126805923, LOC126805924, LOC126805925, LOC126805926, LOC126805927, LOC126805928, LOC129388617, LOC129388618, LOC129388619, LOC129388620, LOC129388621, LOC129388622, LOC129388623, LOC129388624, LOC129388625, LOC129388626, LOC129388627, LOC129388628, LOC129388629, LOC129388630, LOC129388631, LOC129388632, LOC129388633, LOC129388634, LOC129388635, LOC129388636, LOC129388637, LOC129388638, LOC129388639, LOC129388640, LOC129388641, LOC129931807, LOC129931808, LOC129931809, LOC129931810, LOC129931811, LOC129931812, LOC129931813, LOC129931814, LOC129931815, LOC129931816, LOC129931817, LOC129931818, LOC129931819, LOC129931820, LOC129931821, LOC129931822, LOC129931823, LOC129931824, LOC129931825, LOC129931826, LOC129931827, LOC129931828, LOC129931829, LOC129931830, LOC129931831, LOC129931832, LOC129931833, LOC129931834, LOC129931835, LOC129931836, LOC129931837, LOC129931838, LOC129931839, LOC129931840, LOC129931841, LOC129931842, LOC129931843, LOC129931844, LOC129931845, LOC129931846, LOC129931847, LOC129931848, LOC129931849, LOC129931850, LOC129931851, LOC129931852, LOC129931853, LOC129931854, LOC129931855, LOC129931856, LOC129931857, LOC129931858, LOC129931859, LOC129931860, LOC129931861, LOC129931862, LOC129931863, LOC129931864, LOC129931865, LOC129931866, LOC129931867, LOC129931868, LOC129931869, LOC129931870, LOC129931871, LOC129931872, LOC129931873, LOC129931874, LOC129931875, LOC129931876, LOC129931877, LOC129931878, LOC129931879, LOC129931880, LOC129931881, LOC129931882, LOC129931883, LOC129931884, LOC129931885, LOC129931886, LOC129931887, LOC129931888, LOC129931889, LOC129931890, LOC129931891, LOC129931892, LOC129931893, LOC129931894, LOC129931895, LOC129931896, LOC129931897, LOC129931898, LOC129931899, LOC129931900, LOC129931901, LOC129931902, LOC129931903, LOC129931904, LOC129931905, LOC129931906, LOC129931907, LOC129931908, LOC129931909, LOC129931910, LOC129931911, LOC129931912, LOC129931913, LOC129931914, LOC129931915, LOC129931916, LOC129931917, LOC129931918, LOC129931919, LOC129931920, LOC129931921, LOC129931922, LOC129931923, LOC129931924, LOC129931925, LOC129931926, LOC129931927, LOC129931928, LOC129931929, LOC129931930, LOC129931931, LOC129931932, LOC129931933, LOC129931934, LOC129931935, LOC129931936, LOC129931937, LOC129931938, LOC129931939, LOC129931940, LOC129931941, LOC129931942, LOC129931943, LOC129931944, LOC129931945, LOC129931946, LOC129931947, LOC129931948, LOC129931949, LOC129931950, LOC129931951, LOC129931952, LOC129931953, LOC129931954, LOC129931955, LOC129931956, LOC129931957, LOC129931958, LOC129931959, LOC129931960, LOC129931961, LOC129931962, LOC129931963, LOC129931964, LOC129931965, LOC129931966, LOC129931967, LOC129931968, LOC129931969, LOC129931970, LOC129931971, LOC132088596, LOC132088597, LOC132088598, LOC132088682, LOC132088705, LOC132088709, LOC132088744, LOC132088748, LOC132088749, LOC132090669, LRRC52, LRRC52-AS1, MAEL, METTL13, METTL18, MGST3, MIR1255B2, MIR1295A, MIR1295B, MIR199A2, MIR214, MIR3119-1, MIR3119-2, MIR3120, MIR3658, MIR557, MIR921, MPC2, MPZL1, MROH9, MRPS14, MYOC, MYOCOS, NME7, NTMT2, PBX1, PBX1-AS1, PIGC, POGK, POU2F1, POU2F1-DT, PRDX6, PRDX6-AS1, PRRC2C, PRRX1, RABGAP1L, RABGAP1L-AS1, RABGAP1L-DT, RC3H1, RC3H1-DT, RCSD1, RXRG, SCYL3, SELE, SELL, SELP, SERPINC1, SFT2D2, SLC19A2, SLC9C2, SNORA103, SNORD44, SNORD47, SNORD74, SNORD75, SNORD76, SNORD77, SNORD78, SNORD79, SNORD80, SNORD81, STYXL2, SUCO, TADA1, TBX19, TEX50, TIPRL, TMCO1, TMCO1-AS1, TNFSF18, TNFSF4, TNN, TNR, TRP-AGG2-1, TRP-CGG1-1, UCK2, VAMP4, XCL1, XCL2, ZBTB37
See casesPathogenic
(Mar 19, 2013)
no assertion criteria provided
5.
GRCh37:
Chr1:164891892-180030724
GRCh38:
Chr1:164922655-180061589
FAM163A, FAM20B, FAM78B, FAM78B-AS1, FASLG, FIRRM, FMO1, FMO2, FMO3, FMO4, GAS5, GAS5-AS1, GORAB, GORAB-AS1, GPA33, GPR161, GPR52, ILDR2, KIAA0040, KIFAP3, KLHL20, LINC00626, LINC00970, LINC01142, LINC01363, LINC01645, LINC01657, LINC01675, LINC01681, LINC01741, LMX1A, LMX1A-AS1, LMX1A-AS2, LOC100505918, LOC100506023, LOC101928565, LOC101928596, LOC105371622, LOC110121063, LOC110121105, LOC111464988, LOC111556138, LOC112577510, LOC112577511, LOC112577512, LOC112577513, LOC112577514, LOC112577515, LOC112577517, LOC113939980, LOC115801454, LOC115801455, LOC115801456, LOC120766158, LOC120893165, LOC120893166, LOC120893168, LOC121725063, LOC121725064, LOC122128466, LOC122128467, LOC122128468, LOC122128469, LOC122128470, LOC122128471, LOC122128472, LOC122149292, LOC122149293, LOC122149294, LOC122149295, LOC122149296, LOC122149297, LOC122149307, LOC122149308, LOC122149309, LOC122149310, LOC122149311, LOC122149312, LOC122149313, LOC122149314, LOC122149315, LOC122149316, LOC125312414, LOC126805898, LOC126805899, LOC126805900, LOC126805901, LOC126805902, LOC126805903, LOC126805904, LOC126805905, LOC126805906, LOC126805907, LOC126805908, LOC126805909, LOC126805910, LOC126805911, LOC126805912, LOC126805913, LOC126805914, LOC126805915, LOC126805916, LOC126805917, LOC126805918, LOC126805919, LOC126805920, LOC126805921, LOC126805922, LOC126805923, LOC126805924, LOC126805925, LOC126805926, LOC126805927, LOC126805928, LOC126805929, LOC126805930, LOC126805931, LOC126805932, LOC126805933, LOC126805934, LOC126805935, LOC126805936, LOC126805937, LOC126805938, LOC128071543, LOC129388617, LOC129388618, LOC129388619, LOC129388620, LOC129388621, LOC129388622, LOC129388623, LOC129388624, LOC129388625, LOC129388626, LOC129388627, LOC129388628, LOC129388629, LOC129388630, LOC129388631, LOC129388632, LOC129388633, LOC129388634, LOC129388635, LOC129388636, LOC129388637, LOC129388638, LOC129388639, LOC129388640, LOC129388641, LOC129388642, LOC129388643, LOC129388644, LOC129388645, LOC129388646, LOC129931808, LOC129931809, LOC129931810, LOC129931811, LOC129931812, LOC129931813, LOC129931814, LOC129931815, LOC129931816, LOC129931817, LOC129931818, LOC129931819, LOC129931820, LOC129931821, LOC129931822, LOC129931823, LOC129931824, LOC129931825, LOC129931826, LOC129931827, LOC129931828, LOC129931829, LOC129931830, LOC129931831, LOC129931832, LOC129931833, LOC129931834, LOC129931835, LOC129931836, LOC129931837, LOC129931838, LOC129931839, LOC129931840, LOC129931841, LOC129931842, LOC129931843, LOC129931844, LOC129931845, LOC129931846, LOC129931847, LOC129931848, LOC129931849, LOC129931850, LOC129931851, LOC129931852, LOC129931853, LOC129931854, LOC129931855, LOC129931856, LOC129931857, LOC129931858, LOC129931859, LOC129931860, LOC129931861, LOC129931862, LOC129931863, LOC129931864, LOC129931865, LOC129931866, LOC129931867, LOC129931868, LOC129931869, LOC129931870, LOC129931871, LOC129931872, LOC129931873, LOC129931874, LOC129931875, LOC129931876, LOC129931877, LOC129931878, LOC129931879, LOC129931880, LOC129931881, LOC129931882, LOC129931883, LOC129931884, LOC129931885, LOC129931886, LOC129931887, LOC129931888, LOC129931889, LOC129931890, LOC129931891, LOC129931892, LOC129931893, LOC129931894, LOC129931895, LOC129931896, LOC129931897, LOC129931898, LOC129931899, LOC129931900, LOC129931901, LOC129931902, LOC129931903, LOC129931904, LOC129931905, LOC129931906, LOC129931907, LOC129931908, LOC129931909, LOC129931910, LOC129931911, LOC129931912, LOC129931913, LOC129931914, LOC129931915, LOC129931916, LOC129931917, LOC129931918, LOC129931919, LOC129931920, LOC129931921, LOC129931922, LOC129931923, LOC129931924, LOC129931925, LOC129931926, LOC129931927, LOC129931928, LOC129931929, LOC129931930, LOC129931931, LOC129931932, LOC129931933, LOC129931934, LOC129931935, LOC129931936, LOC129931937, LOC129931938, LOC129931939, LOC129931940, LOC129931941, LOC129931942, LOC129931943, LOC129931944, LOC129931945, LOC129931946, LOC129931947, LOC129931948, LOC129931949, LOC129931950, LOC129931951, LOC129931952, LOC129931953, LOC129931954, LOC129931955, LOC129931956, LOC129931957, LOC129931958, LOC129931959, LOC129931960, LOC129931961, LOC129931962, LOC129931963, LOC129931964, LOC129931965, LOC129931966, LOC129931967, LOC129931968, LOC129931969, LOC129931970, LOC129931971, LOC129931972, LOC129931973, LOC129931974, LOC129931975, LOC129931976, LOC129931977, LOC129931978, LOC129931979, LOC129931980, LOC129931981, LOC129931982, LOC129931983, LOC129931984, LOC129931985, LOC129931986, LOC129931987, LOC129931988, LOC129931989, LOC129931990, LOC129931991, LOC129931992, LOC129931993, LOC129931994, LOC129931995, LOC129931996, LOC129931997, LOC129931998, LOC129931999, LOC129932000, LOC129932001, LOC129932002, LOC129932003, LOC129932004, LOC132088596, LOC132088597, LOC132088598, LOC132088744, LOC132088748, LOC132088749, LOC132090669, LRRC52, LRRC52-AS1, MAEL, METTL13, METTL18, MGST3, MIR12116, MIR1255B2, MIR1295A, MIR1295B, MIR1843, MIR199A2, MIR214, MIR3119-1, MIR3119-2, MIR3120, MIR3658, MIR4424, MIR488, MIR557, MIR921, MPC2, MPZL1, MROH9, MRPS14, MYOC, MYOCOS, NME7, NPHS2, NTMT2, PAPPA2, PIGC, POGK, POU2F1, POU2F1-DT, PRDX6, PRDX6-AS1, PRRC2C, PRRX1, RABGAP1L, RABGAP1L-AS1, RABGAP1L-DT, RALGPS2, RALGPS2-AS1, RASAL2, RASAL2-AS1, RC3H1, RC3H1-DT, RCSD1, RXRG, SCARNA3, SCYL3, SEC16B, SELE, SELL, SELP, SERPINC1, SFT2D2, SLC19A2, SLC9C2, SNORA103, SNORD44, SNORD47, SNORD74, SNORD75, SNORD76, SNORD77, SNORD78, SNORD79, SNORD80, SNORD81, SOAT1, STYXL2, SUCO, TADA1, TBX19, TDRD5, TEX35, TEX50, TIPRL, TMCO1, TMCO1-AS1, TNFSF18, TNFSF4, TNN, TNR, TOR1AIP1, TOR1AIP2, TOR3A, TRP-AGG2-1, TRP-CGG1-1, UCK2, VAMP4, XCL1, XCL2, ZBTB37, ABL2, ADCY10, ALDH9A1, ANGPTL1, ANKRD45, ASTN1, ATP1B1, AXDND1, BLZF1, BRINP2, C1orf105, C1orf220, CACYBP, CCDC181, CD247, CENPL, CEP350, CLEC20A, COP1, COP1-DT, CREG1, CRYZL2P-SEC16B, DARS2, DCAF6, DNM3, DNM3-IT1, DNM3OS, DPT, F5
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
6.
GRCh37:
Chr1:166732069-175296559
GRCh38:
Chr1:166762832-175327423
ADCY10, ANKRD45, ATP1B1, BLZF1, C1orf105, CACYBP, CCDC181, CD247, CENPL, CREG1, DARS2, DCAF6, DNM3, DNM3-IT1, DNM3OS, DPT, F5, FASLG, FIRRM, FMO1, FMO2, FMO3, FMO4, GAS5, GAS5-AS1, GORAB, GORAB-AS1, GPA33, GPR161, GPR52, ILDR2, KIAA0040, KIFAP3, KLHL20, LINC00626, LINC00970, LINC01142, LINC01363, LINC01681, LOC100505918, LOC100506023, LOC101928565, LOC101928596, LOC105371622, LOC110121063, LOC110121105, LOC111464988, LOC112577510, LOC112577511, LOC112577512, LOC112577513, LOC112577514, LOC112577515, LOC113939980, LOC115801454, LOC115801455, LOC120893165, LOC120893166, LOC120893168, LOC121725063, LOC121725064, LOC122128469, LOC122128470, LOC122128471, LOC122128472, LOC122149292, LOC122149293, LOC122149294, LOC122149295, LOC122149296, LOC122149297, LOC122149307, LOC122149308, LOC122149309, LOC122149310, LOC122149311, LOC125312414, LOC126805904, LOC126805905, LOC126805906, LOC126805907, LOC126805908, LOC126805909, LOC126805910, LOC126805911, LOC126805912, LOC126805913, LOC126805914, LOC126805915, LOC126805916, LOC126805917, LOC126805918, LOC126805919, LOC126805920, LOC126805921, LOC126805922, LOC126805923, LOC126805924, LOC126805925, LOC126805926, LOC126805927, LOC126805928, LOC129388620, LOC129388621, LOC129388622, LOC129388623, LOC129388624, LOC129388625, LOC129388626, LOC129388627, LOC129388628, LOC129388629, LOC129388630, LOC129388631, LOC129388632, LOC129388633, LOC129388634, LOC129388635, LOC129388636, LOC129388637, LOC129388638, LOC129388639, LOC129388640, LOC129931826, LOC129931827, LOC129931828, LOC129931829, LOC129931830, LOC129931831, LOC129931832, LOC129931833, LOC129931834, LOC129931835, LOC129931836, LOC129931837, LOC129931838, LOC129931839, LOC129931840, LOC129931841, LOC129931842, LOC129931843, LOC129931844, LOC129931845, LOC129931846, LOC129931847, LOC129931848, LOC129931849, LOC129931850, LOC129931851, LOC129931852, LOC129931853, LOC129931854, LOC129931855, LOC129931856, LOC129931857, LOC129931858, LOC129931859, LOC129931860, LOC129931861, LOC129931862, LOC129931863, LOC129931864, LOC129931865, LOC129931866, LOC129931867, LOC129931868, LOC129931869, LOC129931870, LOC129931871, LOC129931872, LOC129931873, LOC129931874, LOC129931875, LOC129931876, LOC129931877, LOC129931878, LOC129931879, LOC129931880, LOC129931881, LOC129931882, LOC129931883, LOC129931884, LOC129931885, LOC129931886, LOC129931887, LOC129931888, LOC129931889, LOC129931890, LOC129931891, LOC129931892, LOC129931893, LOC129931894, LOC129931895, LOC129931896, LOC129931897, LOC129931898, LOC129931899, LOC129931900, LOC129931901, LOC129931902, LOC129931903, LOC129931904, LOC129931905, LOC129931906, LOC129931907, LOC129931908, LOC129931909, LOC129931910, LOC129931911, LOC129931912, LOC129931913, LOC129931914, LOC129931915, LOC129931916, LOC129931917, LOC129931918, LOC129931919, LOC129931920, LOC129931921, LOC129931922, LOC129931923, LOC129931924, LOC129931925, LOC129931926, LOC129931927, LOC129931928, LOC129931929, LOC129931930, LOC129931931, LOC129931932, LOC129931933, LOC129931934, LOC129931935, LOC129931936, LOC129931937, LOC129931938, LOC129931939, LOC129931940, LOC129931941, LOC129931942, LOC129931943, LOC129931944, LOC129931945, LOC129931946, LOC129931947, LOC129931948, LOC129931949, LOC129931950, LOC129931951, LOC129931952, LOC129931953, LOC129931954, LOC129931955, LOC129931956, LOC129931957, LOC129931958, LOC129931959, LOC129931960, LOC129931961, LOC129931962, LOC129931963, LOC129931964, LOC129931965, LOC132088597, LOC132088598, MAEL, METTL13, METTL18, MIR1255B2, MIR1295A, MIR1295B, MIR199A2, MIR214, MIR3119-1, MIR3119-2, MIR3120, MIR557, MPC2, MPZL1, MROH9, MRPS14, MYOC, MYOCOS, NME7, NTMT2, PIGC, POGK, POU2F1, POU2F1-DT, PRDX6, PRDX6-AS1, PRRC2C, PRRX1, RABGAP1L, RABGAP1L-AS1, RABGAP1L-DT, RC3H1, RC3H1-DT, RCSD1, SCYL3, SELE, SELL, SELP, SERPINC1, SFT2D2, SLC19A2, SLC9C2, SNORA103, SNORD44, SNORD47, SNORD74, SNORD75, SNORD76, SNORD77, SNORD78, SNORD79, SNORD80, SNORD81, STYXL2, SUCO, TADA1, TBX19, TEX50, TIPRL, TNFSF18, TNFSF4, TNN, TNR, TRP-AGG2-1, TRP-CGG1-1, VAMP4, XCL1, XCL2, ZBTB37
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
7.
GRCh37:
Chr1:168054800
GRCh38:
Chr1:168085562
GPR161E388G, E406G, E442G, E520G, E537G, E540GPredisposition to medulloblastomaUncertain significance
(Aug 4, 2022)
criteria provided, single submitter
8.
GRCh37:
Chr1:168054857
GRCh38:
Chr1:168085619
GPR161G369fs, G387fs, G423fs, G501fs, G518fs, G521fsMedulloblastomaUncertain significance
(May 2, 2022)
criteria provided, single submitter
9.
GRCh37:
Chr1:168054868
GRCh38:
Chr1:168085630
GPR161not providedLikely benign
(Apr 16, 2018)
criteria provided, single submitter
10.
GRCh37:
Chr1:168054890
GRCh38:
Chr1:168085652
GPR161T510I, T358I, T490I, T376I, T412I, T507IInborn genetic diseasesUncertain significance
(May 9, 2023)
criteria provided, single submitter
11.
GRCh37:
Chr1:168054914
GRCh38:
Chr1:168085676
GPR161E350A, E368A, E404A, E482A, E499A, E502AMedulloblastomaUncertain significance
(Jun 29, 2022)
criteria provided, single submitter
12.
GRCh37:
Chr1:168054946
GRCh38:
Chr1:168085708
GPR161not providedBenign
(Apr 26, 2018)
criteria provided, single submitter
13.
GRCh37:
Chr1:168054949
GRCh38:
Chr1:168085711
GPR161not providedLikely benign
(Apr 7, 2018)
criteria provided, single submitter
14.
GRCh37:
Chr1:168054950
GRCh38:
Chr1:168085712
GPR161I338T, I392T, I487T, I490T, I470T, I356TInborn genetic diseasesUncertain significance
(Oct 26, 2021)
criteria provided, single submitter
15.
GRCh37:
Chr1:168054963
GRCh38:
Chr1:168085725
GPR161not providedBenign
(Apr 16, 2018)
criteria provided, single submitter
16.
GRCh37:
Chr1:168056882
GRCh38:
Chr1:168087644
GPR161T439I, T290I, T344I, T442I, T308I, T422IInborn genetic diseasesUncertain significance
(Oct 26, 2022)
criteria provided, single submitter
17.
GRCh37:
Chr1:168056912
GRCh38:
Chr1:168087674
GPR161T280M, T298M, T334M, T412M, T429M, T432MMedulloblastomaUncertain significance
(Aug 30, 2023)
criteria provided, single submitter
18.
GRCh37:
Chr1:168056916
GRCh38:
Chr1:168087678
GPR161Y279H, Y297H, Y333H, Y411H, Y428H, Y431HInborn genetic diseases, MedulloblastomaUncertain significance
(Jul 17, 2023)
criteria provided, multiple submitters, no conflicts
19.
GRCh37:
Chr1:168056935
GRCh38:
Chr1:168087697
GPR161D272E, D424E, D290E, D326E, D404E, D421EInborn genetic diseasesUncertain significance
(Aug 4, 2022)
criteria provided, single submitter
20.
GRCh37:
Chr1:168059810
GRCh38:
Chr1:168090572
GPR161Q267R, Q285R, Q321R, Q399R, Q416R, Q419RMedulloblastomaUncertain significance
(May 23, 2022)
criteria provided, single submitter
21.
GRCh37:
Chr1:168065768
GRCh38:
Chr1:168096530
GPR161not providedLikely benign
(Jun 14, 2018)
criteria provided, single submitter
22.
GRCh37:
Chr1:168065797
GRCh38:
Chr1:168096559
GPR161V272L, V367L, V218L, V370L, V350L, V236LInborn genetic diseasesUncertain significance
(Mar 29, 2023)
criteria provided, single submitter
23.
GRCh37:
Chr1:168065898
GRCh38:
Chr1:168096660
GPR161S202I, S336I, S184I, S238I, S316I, S333IInborn genetic diseasesUncertain significance
(Dec 21, 2022)
criteria provided, single submitter
24.
GRCh37:
Chr1:168065960
GRCh38:
Chr1:168096722
GPR161not providedLikely benign
(Mar 29, 2018)
criteria provided, single submitter
25.
GRCh37:
Chr1:168066007
GRCh38:
Chr1:168096769
GPR161M202L, M297L, M280L, M166L, M300L, M148LInborn genetic diseasesUncertain significance
(Oct 6, 2021)
criteria provided, single submitter
26.
GRCh37:
Chr1:168066017
GRCh38:
Chr1:168096779
GPR161not providedBenign
(Jul 13, 2018)
criteria provided, single submitter
27.
GRCh37:
Chr1:168066081
GRCh38:
Chr1:168096843
GPR161A177V, A123V, A255V, A272V, A141V, A275VInborn genetic diseasesUncertain significance
(Aug 16, 2022)
criteria provided, single submitter
28.
GRCh37:
Chr1:168066087
GRCh38:
Chr1:168096849
GPR161R175K, R273K, R139K, R253K, R121K, R270KInborn genetic diseasesUncertain significance
(Jan 19, 2022)
criteria provided, single submitter
29.
GRCh37:
Chr1:168066132
GRCh38:
Chr1:168096894
GPR161G106A, G124A, G160A, G238A, G255A, G258AMedulloblastomaUncertain significance
(Oct 17, 2022)
criteria provided, single submitter
30.
GRCh37:
Chr1:168066133
GRCh38:
Chr1:168096895
GPR161G106R, G124R, G160R, G238R, G255R, G258Rnot providedUncertain significance
(Feb 1, 2023)
criteria provided, single submitter
31.
GRCh37:
Chr1:168066150
GRCh38:
Chr1:168096912
GPR161E100G, E118G, E154G, E232G, E249G, E252Gnot providedUncertain significance
(Jan 1, 2022)
criteria provided, single submitter
32.
GRCh37:
Chr1:168066163
GRCh38:
Chr1:168096925
GPR161V114F, V150F, V228F, V245F, V248F, V96FMedulloblastomaUncertain significance
(Aug 2, 2022)
criteria provided, single submitter
33.
GRCh37:
Chr1:168066185
GRCh38:
Chr1:168096947
GPR161not providedLikely benign
(Oct 1, 2023)
criteria provided, single submitter
34.
GRCh37:
Chr1:168066207
GRCh38:
Chr1:168096969
GPR161R230H, R233H, R213H, R135H, R81H, R99HInborn genetic diseasesUncertain significance
(May 3, 2023)
criteria provided, single submitter
35.
GRCh37:
Chr1:168066251
GRCh38:
Chr1:168097013
GPR161not providedBenign
(Dec 31, 2019)
criteria provided, single submitter
36.
GRCh37:
Chr1:168066340
GRCh38:
Chr1:168097102
GPR161V169M, V186M, V189M, V37M, V55M, V91MMedulloblastomaUncertain significance
(Sep 22, 2023)
criteria provided, single submitter
37.
GRCh37:
Chr1:168066357-168066358
GRCh38:
Chr1:168097119-168097120
GPR161L163fs, L180fs, L183fs, L31fs, L49fs, L85fsMedulloblastomaPathogenic
(Oct 17, 2022)
no assertion criteria provided
38.
GRCh37:
Chr1:168066359
GRCh38:
Chr1:168097121
GPR161not providedBenign
(Dec 31, 2019)
criteria provided, single submitter
39.
GRCh37:
Chr1:168066461
GRCh38:
Chr1:168097223
GPR161not providedBenign
(Apr 6, 2018)
criteria provided, single submitter
40.
GRCh37:
Chr1:168073821
GRCh38:
Chr1:168104583
GPR161R90C, R107C, R110CInborn genetic diseasesUncertain significance
(Jul 25, 2023)
criteria provided, single submitter
41.
GRCh37:
Chr1:168073832
GRCh38:
Chr1:168104594
GPR161T106M, T86M, T103MInborn genetic diseasesUncertain significance
(Jul 16, 2021)
criteria provided, single submitter
42.
GRCh37:
Chr1:168073846
GRCh38:
Chr1:168104608
GPR161not providedBenign
(Apr 10, 2018)
criteria provided, single submitter
43.
GRCh37:
Chr1:168073850
GRCh38:
Chr1:168104612
GPR161V80A, V100A, V97AInborn genetic diseasesUncertain significance
(May 9, 2023)
criteria provided, single submitter
44.
GRCh37:
Chr1:168073893
GRCh38:
Chr1:168104655
GPR161V83I, V66I, V86IInborn genetic diseasesUncertain significance
(Feb 11, 2022)
criteria provided, single submitter
45.
GRCh37:
Chr1:168074014
GRCh38:
Chr1:168104776
GPR161not providedBenign
(Apr 13, 2018)
criteria provided, single submitter
46.
GRCh37:
Chr1:168074023
GRCh38:
Chr1:168104785
GPR161not providedBenign
(Dec 31, 2019)
criteria provided, single submitter
47.
GRCh37:
Chr1:168074093
GRCh38:
Chr1:168104855
GPR161L19Q, L16QPituitary stalk interruption syndromeLikely pathogenic
(Jan 1, 2015)
criteria provided, single submitter
48.
GRCh37:
Chr1:168074130
GRCh38:
Chr1:168104892
GPR161V7I, V4Inot providedBenign
(Dec 31, 2019)
criteria provided, single submitter
49.
GRCh37:
Chr1:168105496
GRCh38:
Chr1:168136258
GPR161S47Cnot provided, not specifiedBenign/Likely benignno assertion criteria provided
50.
GRCh37:
Chr1:168105581-168105582
GRCh38:
Chr1:168136343-168136344
GPR161G19fsnot specifiedBenign
(Nov 8, 2015)
criteria provided, single submitter
51.
GRCh37:
Chr1:167400918-168282240
Immunodeficiency 25Uncertain significance
(Mar 25, 2021)
criteria provided, single submitter
52.
GRCh37:
Chr1:167391422-171843613
not specifiedPathogenic
(Mar 1, 2022)
criteria provided, single submitter
53.
GRCh37:
Chr1:162330810-171532331
not specifiedPathogenic
(Mar 1, 2022)
criteria provided, single submitter
54.
GRCh37:
Chr1:167741130-168188082
ADCY10, DCAF6, GPR161, MPC2, MPZL1, TIPRLnot providedUncertain significance
(May 1, 2021)
no assertion criteria provided
55.
GRCh37:
Chr1:130980840-248900000
BGLAP, BLZF1, CFAP126, DUSP12, DUSP23, FMO1, IGFN1, IGSF8, LCE5A, MRPS21, MSTO1, MT1HL1, MTARC1, OR10R2, OR10T2, PEAR1, PTPN7, S100A11, S100A12, S100A13, S100A14, SNRPE, TMEM63A, TMEM79, ZBTB37, ZBTB41, ZP4, ZNF124, ZNF687, ZNF695, ZNF281, ZNF496, ZNF648, ZNF669, ZNF670, ZNF678, TMEM81, TMEM9, TMOD4, TNFAIP8L2, TNFSF18, TNFSF4, TNN, TNNI1, TOR3A, TP53BP2, TPM3, TPR, TRAF3IP3, TRAF5, TRH-GTG2-1, SNX27, SOAT1, SOX13, SPRR1B, SPRR2D, SPRR2A, SPRR2B, ZBTB7B, ZC3H11A, SPATA17, SPATA45, SPATA46, SPHAR, S100A5, SCNM1, SCYL3, S100A16, S100A2, S100A3, S100A4, S100A6, S100A7, S100A7A, S100A8, S100A9, SPMIP3, SPRR1A, RABGAP1L, RABIF, PYCR2, PYGO2, PYHIN1, QSOX1, RAB13, RAB25, RAB29, RAB3GAP2, RAB4A, SCAMP3, SCCPDH, PI4KB, PIGC, PIAS3, PFKFB2, PGBD5, PGLYRP3, PGLYRP4, PHLDA3, PTPRC, OR2AK2, OR2B11, OR14A16, OR14C36, OR1C1, OR2C3, PEX11B, PEX19, PFDN2, OR11L1, OR13G1, OR14I1, OR10X1, OR10Z1, MTR, MTX1, MUC1, NAV1, NAXE, NBPF10, NBPF11, NBPF12, NBPF15, MTARC2, MTMR11, MYBPH, MYOC, MYOG, LPGAT1, LRRC52, LEFTY2, LELP1, LEMD1, LENEP, LGALS8, LCE6A, LEFTY1, LGR6, LIX1L, IL24, IL6R, ILDR2, IL20, ILF2, INAVA, INSRR, INTS3, INTS7, IGSF9, IKBKE, IKBKE-AS1, IPO9, IQGAP3, IRF2BP2, IL10, IL19, GNPAT, GOLPH3L, GOLT1A, GALNT2, GABPB2, GAS5, GON4L, GARIN4, ELF3, ELK4, ENAH, ENSA, ENTREP3, EDEM3, EFCAB2, DYRK3, ECM1, EDARADD, EPHX1, EPRS1, EFNA1, EFNA3, EFNA4, EGLN1, EIF2D, CHTOP, CFHR2, CFHR3, CFAP141, CFAP45, CFHR4, CIART, CKS1B, CLK2, CFH, CFHR1, CFHR5, CGN, CHRNB2, C1orf116, C1orf131, C1orf198, BNIPL, BOLA1, C1orf43, C1orf21, C1orf226, C1orf35, BPNT1, BRINP2, BRINP3, BROX, BTG2, BTNL10, C1orf105, C1orf115, ABCB10, ACTN2, ADAM15, ACP6, ACTA1, ABL2, ACBD3, ACBD6, ACKR1, ADAMTS4, ADAMTSL4, ADAR, ADCY10, ADIPOR1, ADORA1, ADSS2, AGT, AHCTF1, AIDA, AIM2, AKT3, ALDH9A1, ANGEL2, ANGPTL1, ANKRD34A, ANKRD35, ANKRD45, ANP32E, ANXA9, APCS, APH1A, APOA2, APOBEC4, AQP10, ARF1, ARHGAP30, ARHGEF11, ARHGEF2, ARID4B, ARL8A, ARNT, ARPC5, ARV1, ASCL5, ASH1L, ASPM, ASTN1, ATF3, ATF6, ATP1A2, ATP1A4, ATP1B1, ATP2B4, ATP6V1G3, ATP8B2, AVPR1B, AXDND1, B3GALNT2, B3GALT2, B4GALT3, BATF3, BCAN, BCL9, C1orf53, C1orf54, C1orf56, C1orf74, C2CD4D, C4BPA, C4BPB, CA14, CACNA1E, CACNA1S, CACYBP, CADM3, CAMK1G, CAMSAP2, CAPN2, CAPN8, CAPN9, CASQ1, CATSPERE, CCDC181, CCDC185, CCDC190, CCSAP, CCT3, CD160, CD1A, CD1B, CD1C, CD1D, CD1E, CD244, CD247, CD34, CD46, CD48, CD55, CD5L, CD84, CDC42BPA, CDC42SE1, CDC73, CDK18, CELF3, CENPF, CENPL, CEP170, CEP350, CERS2, CHD1L, CHI3L1, CHIT1, CHML, CHRM3, CNIH3, CNIH4, CNST, CNTN2, COA6, COG2, COLGALT2, COP1, COPA, COQ8A, COX20, CR1, CR1L, CR2, CRABP2, CRB1, CRCT1, CREB3L4, CREG1, CRNN, CRP, CRTC2, CSRP1, CTSE, CTSK, CTSS, CYB5R1, DAP3, DARS2, DCAF6, DCAF8, DCAF8-DT, DCST1, DCST2, DDR2, DDX59, DEDD, DEGS1, DENND1B, DENND4B, DESI2, DHX9, DISC1, DISC2, DISP1, DNAH14, DNM3, DNM3OS, DPM3, DPT, DSTYK, DTL, DUSP10, ERO1B, ESRRG, ETNK2, ETV3, ETV3L, EXO1, EXOC8, F11R, F13B, F5, FALEC, FAM163A, FAM177B, FAM20B, FAM72A, FAM72C, FAM72D, FAM78B, FAM89A, FASLG, FBXO28, FCAMR, FCER1A, FCER1G, FCGR1A, FCGR2A, FCGR2B, FCGR2C, FCGR3A, FCGR3B, FCMR, FCRL1, FCRL2, FCRL3, FCRL4, FCRL5, FCRL6, FCRLA, FCRLB, FDPS, FH, FIRRM, FLAD1, FLG, FLG2, FLVCR1, FLVCR1-DT, FMN2, FMO2, FMO3, FMO4, FMO5, FMOD, G0S2, GATAD2B, GBA1, GCSAML, GGPS1, GJA5, GJA8, GJC2, GLMP, GLRX2, GLUL, GNG4, GORAB, GPA33, GPATCH2, GPATCH4, GPR137B, GPR161, GPR25, GPR37L1, GPR52, GPR89A, GPR89B, GREM2, GUK1, H2AC18, H2AC19, H2AC20, H2AC21, H2AC25, H2BC18, H2BC21, H2BC26, H3-3A, H3-4, H3C13, H3C14, H3C15, H4C14, H4C15, HAPLN2, HAX1, HCN3, HDGF, HEATR1, HHAT, HHIPL2, HJV, HLX, HMCN1, HNRNPU, HORMAD1, HRNR, HSD11B1, HSD17B7, HSPA6, IARS2, IBA57, IER5, IFI16, IRF6, ISG20L2, ITGA10, ITLN1, ITLN2, ITPKB, IVL, IVNS1ABP, JMJD4, JTB, KCNH1, KCNJ10, KCNJ9, KCNK1, KCNK2, KCNN3, KCNT2, KCTD3, KDM5B, KHDC4, KIAA0040, KIAA1614, KIF14, KIF21B, KIF26B, KIFAP3, KIRREL1, KIRREL1-IT1, KISS1, KLHDC8A, KLHDC9, KLHL12, KLHL20, KMO, KPLCE, KPRP, KRTCAP2, LAD1, LAMB3, LAMC1, LAMC2, LAMTOR2, LAX1, LBR, LCE1A, LCE1B, LCE1C, LCE1D, LCE1E, LCE1F, LCE2A, LCE2B, LCE2C, LCE2D, LCE3A, LCE3B, LCE3C, LCE3D, LCE3E, LCE4A, LHX4, LHX9, LIN9, LINC00538, LINC02897, LINGO4, LMNA, LMOD1, LMX1A, LNCATV, LOC101928034, LORICRIN, LRRC71, LRRN2, LY9, LYPLAL1, LYSMD1, LYST, MAEL, MAP10, MAP1LC3C, MAP3K21, MAPKAPK2, MARK1, MCL1, MDM4, MEF2D, METTL13, METTL18, METTL25B, MEX3A, MFSD4A, MGST3, MIA3, MINDY1, MIR181A1, MIR181B1, MIR194-1, MIR199A2, MIR205, MIR205HG, MIR214, MIR215, MIR29B2CHG, MIR29C, MIR3120, MIR9-1, MIR9-1HG, MIXL1, MLLT11, MNDA, MPC2, MPZ, MPZL1, MR1, MROH9, MRPL24, MRPL55, MRPL9, MRPS14, NBPF8, NBPF9, NCF2, NCSTN, NDUFS2, NECTIN4, NEK2, NEK7, NENF, NES, NFASC, NHLH1, NIBAN1, NID1, NIT1, NLRP3, NME7, NMNAT2, NOS1AP, NOTCH2NLA, NPHS2, NPL, NPR1, NR1I3, NR5A2, NSL1, NTMT2, NTPCR, NTRK1, NUAK2, NUCKS1, NUDT17, NUF2, NUP133, NUP210L, NVL, OAZ3, OBSCN, OCLM, ODR4, OLFML2B, OPN3, OPTC, OR10J1, OR10J3, OR10J5, OR10K1, OR10K2, OR2G2, OR2G3, OR2G6, OR2L13, OR2L2, OR2L3, OR2L5, OR2L8, OR2M2, OR2M3, OR2M4, OR2M5, OR2M7, OR2T1, OR2T10, OR2T11, OR2T12, OR2T2, OR2T27, OR2T29, OR2T3, OR2T33, OR2T34, OR2T35, OR2T4, OR2T5, OR2T6, OR2T8, OR2W3, OR6F1, OR6K2, OR6K3, OR6K6, OR6N1, OR6N2, OR6P1, OR6Y1, OTUD7B, PACC1, PAPPA2, PAQR6, PARP1, PBX1, PBXIP1, PCAT6, PCNX2, PCP4L1, PDC, PDE4DIP, PDZK1, PEA15, PIGM, PIGR, PIK3C2B, PIP5K1A, PKLR, PKP1, PLA2G4A, PLD5, PLEKHA6, PLEKHO1, PLXNA2, PM20D1, PMF1, PMF1-BGLAP, PMVK, POGK, POGZ, POLR3C, POLR3GL, POU2F1, PPFIA4, PPIAL4A, PPIAL4C, PPIAL4D, PPIAL4E, PPIAL4F, PPIAL4G, PPOX, PPP1R12B, PPP1R15B, PPP2R5A, PRCC, PRDX6, PRELP, PRG4, PRKAB2, PROX1, PRPF3, PRR9, PRRC2C, PRRX1, PRSS38, PRUNE1, PSEN2, PSMB4, PSMD4, PTGS2, PTPN14, RALGPS2, RASAL2, RASSF5, RBBP5, RBM34, RBM8A, RC3H1, RCOR3, RCSD1, RD3, REN, RFX5, RGL1, RGS1, RGS13, RGS16, RGS18, RGS2, RGS21, RGS4, RGS5, RGS7, RGS8, RGSL1, RHBG, RHEX, RHOU, RIIAD1, RIT1, RNASEL, RNF115, RNF187, RNF2, RNPEP, RO60, RORC, RPRD2, RPS27, RPS6KC1, RPTN, RRP15, RUSC1, RUSC1-AS1, RXFP4, RXRG, RYR2, S100A1, S100A10, SDCCAG8, SDE2, SDHC, SEC16B, SELE, SELENBP1, SELL, SELP, SEMA4A, SEMA6C, SERPINC1, SERTAD4, SETDB1, SF3B4, SFT2D2, SH2D1B, SH2D2A, SHC1, SHCBP1L, SHE, SHISA4, SIPA1L2, SLAMF1, SLAMF6, SLAMF7, SLAMF8, SLAMF9, SLC19A2, SLC25A44, SLC26A9, SLC27A3, SLC30A1, SLC30A10, SLC35F3, SLC39A1, SLC41A1, SLC45A3, SLC50A1, SLC9C2, SMCP, SMG5, SMG7, SMYD2, SMYD3, SNAP47, SNAPIN, SNHG28, SPRR2E, SPRR2F, SPRR2G, SPRR3, SPRR4, SPRTN, SPTA1, SRGAP2, SRGAP2B, SRP9, SSR2, STUM, STX6, STYXL2, SUCO, SUSD4, SV2A, SWT1, SYT11, SYT14, SYT2, TADA1, TAF1A, TAF5L, TAGLN2, TARBP1, TARS2, TATDN3, TBCE, TBX19, TCHH, TCHHL1, TDRD10, TDRD5, TDRKH, TEDDM1, TEX35, TFB2M, TGFB2, THBS3, THEM4, THEM5, TIMM17A, TIPRL, TLR5, TMCC2, TMCO1, TMEM183A, TNNT2, TNR, TOMM20, TOMM40L, TOR1AIP1, TOR1AIP2, TRIM11, TRIM17, TRIM46, TRIM58, TRIM67, TRMT1L, TRN-GTT2-7, TSACC, TSEN15, TSNAX, TSTD1, TTC13, TTC24, TUFT1, TXNIP, UAP1, UBAP2L, UBE2Q1, UBE2T, UBQLN4, UCHL5, UCK2, UFC1, UHMK1, URB2, USF1, USH2A, USP21, UTP25, VAMP4, VANGL2, VASH2, VHLL, VN1R5, VPS45, VPS72, VSIG8, WDR26, WDR64, WNT3A, WNT9A, XCL1, XCL2, XPR1, YOD1, YY1AP1, ZBED6, ZBTB18
Paragangliomas 3, Gastrointestinal stroma tumor, Parathyroid carcinoma
Uncertain significance
(Feb 14, 2020)
criteria provided, single submitter
56.
GRCh37:
Chr1:164608682-169216098
not providedLikely pathogenic
(Jan 24, 2020)
no assertion criteria provided
57.
GRCh37:
Chr1:167430471-174635618
not providedPathogenic
(Jun 3, 2019)
no assertion criteria provided
58.
GRCh37:
Chr1:163093021-168991239
not providedPathogenic
(Apr 13, 2017)
no assertion criteria provided
59.
GRCh37:
Chr1:160369890-175796325